Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat
; 43(6): 782-790, 2022 06.
Article
en En
| MEDLINE
| ID: mdl-35191117
ABSTRACT
Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that provide variant-level information and phenotypic features to researchers, clinicians, healthcare providers and patients. Following the footsteps of the Matchmaker Exchange project that connects exome, genome, and phenotype databases at the gene level, these databases have as one goal to facilitate connection to one another using Data Connect, a standard for discovery and search of biomedical data from the Global Alliance for Genomics and Health (GA4GH).
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Texto completo:
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Bases de datos:
MEDLINE
Asunto principal:
Bases de Datos Genéticas
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Difusión de la Información
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos